Canonical Allele Identifier: CA339953954

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1056847
• ClinVar RCV Id: RCV001365734
• dbSNP Id: rs2124446437
• MyVariant Identifiers: chr1:g.43393392A>G (hg19) ; chr1:g.42927721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927721A>G , CM000663.2:g.42927721A>G	GRCh38
NC_000001.10:g.43393392A>G , CM000663.1:g.43393392A>G	GRCh37
NC_000001.9:g.43165979A>G	NCBI36
NG_008232.1:g.36456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1162T>C MANE Select	ENSP00000416293.2:p.Trp388Arg
ENST00000674545.1:n.1779T>C
ENST00000674765.1:c.1030-864T>C	ENSP00000501811.1:n.1030-864T>C
ENST00000675112.1:n.1463T>C
ENST00000676254.1:n.1611T>C
ENST00000426263.7:c.1162T>C	ENSP00000416293.2:p.Trp388Arg
ENST00000475162.3:c.416-743T>C
ENST00000630287.2:c.*477T>C	ENSP00000486694.1:n.*477T>C
NM_006516.2:c.1162T>C	NP_006507.2:p.Trp388Arg
NM_006516.3:c.1162T>C	NP_006507.2:p.Trp388Arg
NM_006516.4:c.1162T>C MANE Select	NP_006507.2:p.Trp388Arg